Native American myopathy
MeSH: C538343ORPHA: 168572
Overview
Human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Native American myopathy, sourced from HPO and Orphanet clinical annotations.
Myopathic faciesCryptorchidismCleft palateHypotoniaMotor delayBilateral ptosisTalipes equinovarusMuscle weaknessGastroesophageal refluxMalignant hyperthermiaRespiratory insufficiencyCongenital contractureArthrogryposis multiplex congenitaSkeletal muscle atrophyShort statureProgressive congenital scoliosisAbnormal curvature of the vertebral columnFeeding difficultiesAbnormality of skeletal muscle fiber sizeBifid uvulaHigh palateMicrognathiaConductive hearing impairmentDownslanted palpebral fissuresDysarthriaReduced tendon reflexesDownturned corners of mouthSubmucous cleft soft palateMuscle fiber atrophyFacial hemangiomaMild intellectual disabilityJoint hypermobilityInability to walkCamptodactyly
Classification & Codes
MeSH Code
C538343Orphanet Code
ORPHA:168572Native American myopathy
| MeSH | C538343 |
| Orphanet | ORPHA:168572 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO